3lbx: Difference between revisions
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{{STRUCTURE_3lbx| PDB=3lbx | SCENE= }} | {{STRUCTURE_3lbx| PDB=3lbx | SCENE= }} | ||
===Crystal Structure of the Erythrocyte Spectrin Tetramerization Domain Complex=== | |||
{{ABSTRACT_PUBMED_20197550}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SPTA1_HUMAN SPTA1_HUMAN]] Defects in SPTA1 are the cause of elliptocytosis type 2 (EL2) [MIM:[http://omim.org/entry/130600 130600]]. EL2 is a Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.<ref>PMID:2794061</ref><ref>PMID:8018926</ref><ref>PMID:1679439</ref><ref>PMID:1878597</ref><ref>PMID:2568862</ref><ref>PMID:1541680</ref><ref>PMID:8364215</ref><ref>PMID:2384601</ref><ref>PMID:1638030</ref><ref>PMID:2568861</ref><ref>PMID:8193371</ref><ref>PMID:7772539</ref> Defects in SPTA1 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:[http://omim.org/entry/266140 266140]]. HPP is an autosomal recessive disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.<ref>PMID:1878597</ref> Defects in SPTA1 are the cause of spherocytosis type 3 (SPH3) [MIM:[http://omim.org/entry/270970 270970]]; also known as hereditary spherocytosis type 3 (HS3). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. [[http://www.uniprot.org/uniprot/SPTB1_HUMAN SPTB1_HUMAN]] Defects in SPTB are the cause of elliptocytosis type 3 (EL3) [MIM:[http://omim.org/entry/182870 182870]]. EL3 is a Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.<ref>PMID:8226774</ref><ref>PMID:7883966</ref><ref>PMID:8018926</ref><ref>PMID:1975598</ref> Defects in SPTB are the cause of spherocytosis type 2 (SPH2) [MIM:[http://omim.org/entry/182870 182870]]; also known as hereditary spherocytosis type 2 (HS2). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH2 is characterized by severe hemolytic anemia. Inheritance is autosomal dominant. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SPTA1_HUMAN SPTA1_HUMAN]] Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. [[http://www.uniprot.org/uniprot/SPTB1_HUMAN SPTB1_HUMAN]] Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:020197550</ref><references group="xtra"/> | <ref group="xtra">PMID:020197550</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Harper, S L.]] | [[Category: Harper, S L.]] | ||
